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Metadata
ID DOID:0080441
Name developmental and epileptic encephalopathy 49
Definition A developmental and epileptic encephalopathy characterized by neonatal onset of seizures, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DENND5A gene on chromosome 11p15.
https://www.ncbi.nlm.nih.gov/pubmed/27866705
Xrefs

OMIM:617281

Synonyms

DEE49 [EXACT]

early infantile epileptic encephalopathy 49 [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal recessive disease

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